Variant report

Variant	nsv1014839
Chromosome Location	chr4:78167603-78255427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr4:78169965-78170247	HepG2	liver:	n/a	n/a
2	BRCA1	chr4:78230084-78230356	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr4:78253746-78254319	HCT-116	colon:	n/a	n/a
4	CBX3	chr4:78253824-78254202	K562	blood:	n/a	n/a
5	CBX3	chr4:78253883-78254139	K562	blood:	n/a	n/a
6	CEBPB	chr4:78226971-78227260	K562	blood:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
7	CEBPB	chr4:78215392-78215580	K562	blood:	n/a	chr4:78215544-78215555
8	CEBPB	chr4:78215400-78215689	HepG2	liver:	n/a	chr4:78215544-78215555
9	CEBPB	chr4:78171884-78171912	HepG2	liver:	n/a	n/a
10	CEBPB	chr4:78169257-78169440	HepG2	liver:	n/a	n/a
11	CEBPB	chr4:78215423-78215638	IMR90	lung:	n/a	chr4:78215544-78215555
12	CEBPB	chr4:78226915-78227276	MCF-7	breast:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
13	CEBPB	chr4:78226987-78227290	HepG2	liver:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
14	CEBPB	chr4:78227010-78227248	Hela-S3	cervix:	n/a	chr4:78227117-78227130 chr4:78227117-78227128 chr4:78227118-78227129 chr4:78227117-78227130
15	CHD2	chr4:78254095-78254505	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr4:78230108-78230195	HepG2	liver:	n/a	n/a
17	CTCF	chr4:78230180-78230330	MCF-7	breast:	n/a	n/a
18	CTCF	chr4:78230120-78230270	HL-60	blood:	n/a	n/a
19	CTCF	chr4:78230029-78230370	K562	blood:	n/a	n/a
20	CTCF	chr4:78238320-78238470	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr4:78226980-78227130	HEEpiC	esophagus:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
22	CTCF	chr4:78230115-78230321	MCF-7	breast:	n/a	n/a
23	CTCF	chr4:78188202-78188229	MCF-7	breast:	n/a	n/a
24	CTCF	chr4:78230160-78230310	GM06990	blood:	n/a	n/a
25	CTCF	chr4:78170660-78170810	HEEpiC	esophagus:	n/a	chr4:78170664-78170685 chr4:78170669-78170687 chr4:78170675-78170684
26	CTCF	chr4:78206420-78206570	HPF	lung:	n/a	n/a
27	CTCF	chr4:78227020-78227170	HEEpiC	esophagus:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
28	CTCF	chr4:78170560-78170710	HEK293	kidney:	n/a	chr4:78170664-78170685 chr4:78170669-78170687 chr4:78170675-78170684
29	CTCF	chr4:78230056-78230266	A549	lung:	n/a	n/a
30	CTCF	chr4:78230140-78230290	HPF	lung:	n/a	n/a
31	CTCF	chr4:78227160-78227310	RPTEC	kidney:	n/a	n/a
32	CTCF	chr4:78226982-78227193	Medullo	brain:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
33	CTCF	chr4:78230095-78230304	ECC-1	luminal epithelium:	n/a	n/a
34	CTCF	chr4:78227020-78227170	WERI-Rb-1	eye:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
35	CTCF	chr4:78227040-78227190	SAEC	small airway:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
36	CTCF	chr4:78230140-78230290	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr4:78197240-78197390	NHEK	skin:	n/a	n/a
38	CTCF	chr4:78227080-78227230	Hela-S3	cervix:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
39	CTCF	chr4:78227062-78227175	Gliobla	brain:	n/a	chr4:78227096-78227117 chr4:78227101-78227119 chr4:78227103-78227116
40	CTCF	chr4:78230160-78230310	AG04450	lung:	n/a	n/a
41	CTCF	chr4:78230100-78230250	GM12801	blood:	n/a	n/a
42	CTCF	chr4:78241225-78241257	GM10248	blood:	n/a	n/a
43	CTCF	chr4:78230080-78230230	HAc	cerebellar:	n/a	n/a
44	CTCF	chr4:78230120-78230270	GM12873	blood:	n/a	n/a
45	CTCF	chr4:78170560-78170710	HMF	breast:	n/a	chr4:78170664-78170685 chr4:78170669-78170687 chr4:78170675-78170684
46	CTCF	chr4:78230140-78230290	HMF	breast:	n/a	n/a
47	CTCF	chr4:78197260-78197410	HCT-116	colon:	n/a	n/a
48	CTCF	chr4:78230120-78230270	HPF	lung:	n/a	n/a
49	CTCF	chr4:78173055-78173102	GM20000	blood:	n/a	n/a
50	CTCF	chr4:78230140-78230290	BJ	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:78161284..78162458-chr4:78229777..78230742,7	K562	blood:
2	chr4:78174499..78176837-chr4:78205161..78207032,2	MCF-7	breast:
3	chr4:78162165..78163774-chr4:78227168..78228953,2	MCF-7	breast:
4	chr4:78177354..78179710-chr4:78180664..78183643,2	MCF-7	breast:
5	chr4:78161188..78162532-chr4:78229476..78230856,15	MCF-7	breast:
6	chr4:77973179..77974099-chr4:78229775..78230650,3	K562	blood:
7	chr4:78161311..78162711-chr4:78226629..78227614,14	MCF-7	breast:
8	chr4:78229797..78230625-chr4:78279333..78280102,3	MCF-7	breast:
9	chr4:78177354..78179710-chr4:78180664..78183643,2	MCF-7	breast:
10	chr4:78182930..78185790-chr4:78187841..78189605,2	K562	blood:
11	chr4:78182930..78185790-chr4:78187841..78189605,2	K562	blood:
12	chr4:78174499..78176837-chr4:78205161..78207032,2	MCF-7	breast:
13	chr4:78236163..78238480-chr4:78287943..78289669,2	K562	blood:
14	chr4:78158067..78160012-chr4:78227264..78228770,2	MCF-7	breast:
15	chr4:78161416..78162110-chr4:78226527..78227315,3	MCF-7	breast:
16	chr4:78155142..78157870-chr4:78168469..78170209,2	MCF-7	breast:
17	chr4:78160754..78162321-chr4:78226906..78228617,2	MCF-7	breast:
18	chr4:78230184..78230702-chr4:78278364..78278865,2	MCF-7	breast:
19	chr4:78155252..78157365-chr4:78224145..78227144,3	MCF-7	breast:
20	chr4:78161398..78162211-chr4:78229720..78230660,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNI-5	chr4:78232550-78233264	NONHSAT097052

Variant related genes	Relation type
ENSG00000250006	TF binding region

Extended variants
information (count: 4226 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:4226 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538452719	chr4:78168607-78168608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76396153	chr4:78168609-78168610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564067844	chr4:78168643-78168644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533073630	chr4:78168653-78168654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549526049	chr4:78168664-78168665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569518824	chr4:78168671-78168672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114895098	chr4:78168705-78168706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549253345	chr4:78168716-78168717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566052068	chr4:78168732-78168733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534734334	chr4:78168819-78168820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371612331	chr4:78168822-78168823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540595624	chr4:78168846-78168847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7679491	chr4:78168857-78168858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs537752368	chr4:78168888-78168889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148189891	chr4:78168931-78168932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6835713	chr4:78168932-78168933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs535526818	chr4:78168936-78168937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9992981	chr4:78168981-78168982	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141577109	chr4:78168985-78168986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145895630	chr4:78169002-78169003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138482283	chr4:78169012-78169013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142914244	chr4:78169050-78169051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10007048	chr4:78169053-78169054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563047761	chr4:78169055-78169056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530711282	chr4:78169074-78169075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs58866513	chr4:78169121-78169122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2216630	chr4:78169155-78169156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs751600	chr4:78169157-78169158	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373333522	chr4:78169167-78169168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559556882	chr4:78169175-78169176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540363362	chr4:78169197-78169198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370699146	chr4:78169198-78169199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34453438	chr4:78169199-78169200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551761507	chr4:78169212-78169213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571673936	chr4:78169233-78169234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183866060	chr4:78169244-78169245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529310644	chr4:78169245-78169246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551338574	chr4:78169271-78169272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376415779	chr4:78169297-78169298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs5859569	chr4:78169328-78169329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9995594	chr4:78169358-78169359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150671448	chr4:78169400-78169401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530599441	chr4:78169416-78169417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139747643	chr4:78169433-78169434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562251381	chr4:78169440-78169441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115956482	chr4:78169442-78169443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1808381	chr4:78169445-78169446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577258014	chr4:78169452-78169453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149372747	chr4:78169492-78169493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112643341	chr4:78169497-78169498	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78168600-78170000	Enhancers	Pancreas	Pancrea
2	chr4:78169800-78170400	Enhancers	HepG2	liver
3	chr4:78169800-78170800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:78170000-78170400	Enhancers	Gastric	stomach
5	chr4:78170000-78170400	Weak transcription	Pancreas	Pancrea
6	chr4:78170400-78173000	Enhancers	Pancreas	Pancrea
7	chr4:78172000-78172200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:78172000-78172400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:78175000-78176000	Enhancers	Placenta	Placenta
10	chr4:78176000-78176800	Weak transcription	Placenta	Placenta
11	chr4:78176000-78177000	Enhancers	Fetal Intestine Small	intestine
12	chr4:78176800-78177600	Enhancers	Placenta	Placenta
13	chr4:78180000-78190200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:78181000-78181400	Enhancers	Adipose Nuclei	Adipose
15	chr4:78181400-78182400	Weak transcription	Adipose Nuclei	Adipose
16	chr4:78182400-78182600	Enhancers	Adipose Nuclei	Adipose
17	chr4:78184400-78184800	Enhancers	Placenta	Placenta
18	chr4:78184800-78186200	Weak transcription	Placenta	Placenta
19	chr4:78186200-78186600	Enhancers	HMEC	breast
20	chr4:78186200-78186800	Enhancers	Placenta	Placenta
21	chr4:78186600-78190400	Weak transcription	HMEC	breast
22	chr4:78186800-78188600	Weak transcription	Placenta	Placenta
23	chr4:78188600-78190600	Enhancers	Placenta	Placenta
24	chr4:78190200-78191000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:78190200-78191000	Bivalent Enhancer	HSMMtube	muscle
26	chr4:78190200-78191400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:78190400-78191000	Enhancers	HMEC	breast
28	chr4:78190400-78191600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr4:78190600-78191000	Weak transcription	Placenta	Placenta
30	chr4:78191000-78193600	Enhancers	Placenta	Placenta
31	chr4:78191000-78200000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:78193600-78205400	Weak transcription	Placenta	Placenta
33	chr4:78199600-78201200	Enhancers	HMEC	breast
34	chr4:78200000-78200800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:78200000-78201000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:78200000-78201000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:78200000-78201000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:78203200-78203600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:78203400-78203800	Enhancers	Adipose Nuclei	Adipose
40	chr4:78205200-78205600	Enhancers	HSMMtube	muscle
41	chr4:78205200-78205800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:78205400-78205800	Enhancers	Placenta	Placenta
43	chr4:78205800-78211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:78210400-78210600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:78210600-78221800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:78213200-78214600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr4:78214400-78214600	Enhancers	Placenta	Placenta
48	chr4:78214600-78214800	Enhancers	H9 Cell Line	embryonic stem cell
49	chr4:78214600-78215200	Weak transcription	Placenta	Placenta
50	chr4:78215200-78216000	Enhancers	Placenta	Placenta

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